Q380* (p.Gln380Ter) variant of TH (Tyrosine 3-monooxygenase)
Q380* (p.Gln380Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q380* (p.Gln380Ter) variant details
- p.Gln380Ter
- rs121917762
- gnomAD 11-2165727-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.27
- MetaLR 0.99
- MetaSVM 1.03
- CADD 50.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available